Individual #00377205

ID_report 292
Reference Tracewska 2021, MolVis in press
Remarks proband
Gender F
Consanguinity no
Country Poland
Population Slavic
Age at death -
VIP -
Data_av yes
Treatment -
Panel size 1
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-07-16 14:18:12 +02:00 (CEST)
Date last edited N/A


Phenotypes

retinal disease (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000272363 see paper retinal disease Leber congenital amaurosis, type 10 (LCA-10) Familial, autosomal recessive 1y 2y 7m - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000378410 DNA SEQ-NG-I;SEQ blood targeted resequencing using MIPs library prep; 108-gene panel CEP290 2 LOVD



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
12 Maternal (confirmed) +/. ACMG pathogenic g.88494960T>C g.88101183T>C - - CEP290_000002 - Tracewska 2021, MolVis in press - - Germline yes 0,0006 (in-house database, ~5000 samples) - - - LOVD CEP290 - - - - 26i NM_025114.3:c.2991+1655A>G - r.spl p.(Cys998*) - - - - - - - - - - - - - -
12 Paternal (confirmed) +?/. ACMG likely pathogenic g.88533337T>C g.88139560T>C - - CEP290_000496 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - LOVD CEP290 - - - - 4 NM_025114.3:c.185A>G - r.(?) p.(Lys62Arg) - - - - - - - - - - - - - -
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